Screening Analysis of Neonatal Congenital Hypothyroidism and Phenylketonuria in Lianyungang Area / 实用儿科临床杂志

ABSTRACT

Objective To explore the incidence and distribution features of neonatal phenylketonuria(PKU) and congenital hypothyroidism(CH) in Lianyungang area.Methods The heel blood samples dried on filter paper was collected from newborns after 72 hours.As the screening indicators,PKU was detected through serum phenylalanine concentration(Phe) detection by Guthrie′s bacterial inhibition assay and CH was detected through serum thyroid stimulating hormone(TSH) levels detection by time-resolved fluorometry(TRFIA) or enzyme linked immunosorbent assay(ELISA).Results Sixty-four children with CH were diagnosed and the rate of CH was 1∶2423,41 patients were examined by thyroid gland nuclein kinescope picture,among which there were 23 patients whose thyroid glands were unusal.These patients lived in 45 towns(streets),which had no difference between men and women,city and country side.A couple of twins were screened for CH;15 cases of PKU was detected with an incidence of 1∶10 339.These patients′ parents were neither consanguineous marriage nor dominance hereditary family history.Their physical and mental development were similar to the same age children after interventive treatment.Conclusions The distribution of CH and PKU is diffuse in Lianyungang.Neonatal screening is the only valid means to find patients with CH and PKU.